Grant: Regional Partnership Program Fellowship

Nearly 150 families have been identified in Newfoundland with inherited cardiomyopathies many of which have an unknown genetic basis. Of the genetically solved families a number had ARVD5, which was identified as a novel mutation in the under described gene, TMEM43. Several other families were found to have mutations in Lamin A/C, dystrophin or plakophillin, genes known to be involved in cardiomyopathies. Currently I am involved in the functional analysis of TMEM43 is underway through the generation of an animal model of the disease and using cell culture and in tissue sample from affected patients. Analysis of other ARVC genes in the 15 families may yield modifiers of this disease. Finally novel gene discoveries will be initiated looking at the remaining unsolved families that have already been recruited to this study. This clinical cohort will be screened for relevant genes and unsolved, extended, multiplex families will be fodder for novel gene discovery, as was the case for ARVD5. We hope that to make genetic testing possible and enable clinicians' insight to the disease to help them design suitable treatment options.